Pregnant couples at increased risk for common aneuploidies choose maximal information from invasive genetic testing

Sanne Steen, Karin Diderich, Sam Riedijk, Judith Verhagen, LCP Govaerts, Marieke Joosten, Maarten Knapen, D Opstal, Gosia Srebniak, A Tibben, Robert-Jan Galjaard

Research output: Contribution to journalArticleAcademicpeer-review

40 Citations (Scopus)

Abstract

Genomic array detects more pathogenic chromosome aberrations than conventional karyotyping (CK), including genetic variants associated with a susceptibility for neurodevelopmental disorders; susceptibility loci (SL). Consensus regarding the scope of invasive prenatal diagnosis (PND) pregnant couples should be offered is lacking. This study examined pregnant couples' preferences, doubts and satisfaction regarding the scope of invasive PND. Eighty-two couples choosing prenatal screening (PNS) and 59 couples choosing invasive PND were offered a choice between 5 (comparable to CK) and 0.5Mb resolution array analysis outcomes, the latter with or without reporting SL. A pre-test self-report questionnaire and post-test telephone interview assessed their choices in-depth. Actual (PND) and hypothetical (PNS) choices differed significantly (p<0.001). Ninety-five percent of the couples in the PND group chose 0.5Mb array, vs 69% in the PNS group. Seven percent of the PND group wished not to be informed of SL. Ninety percent was satisfied with their choice and wished to decide about the scope themselves. Pregnant couples wish to make their own choices regarding the scope of invasive PND. It therefore seems justified to offer them a choice in both the resolution of array and disclosure of SL.
Original languageEnglish
Pages (from-to)25-31
Number of pages7
JournalClinical Genetics
Volume88
Issue number1
DOIs
Publication statusPublished - Jul 2015

Research programs

  • EMC MGC-02-52-01-A
  • EMC MGC-02-96-01

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